Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal syndrome, and is usually caused by mutations in the DCAF17 gene as an inherited disease. DCAF17 plays an important role in mammalian gonad...

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Detalles Bibliográficos
Autores principales: Chen, Guangmin, Zhou, Ling, Chen, Qimou, Wang, Juan, Jiang, Peng, Shen, Rufei, Long, Min, Zhou, Houdi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498701/
https://www.ncbi.nlm.nih.gov/pubmed/34630532
http://dx.doi.org/10.3389/fgene.2021.741323

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498701/
https://www.ncbi.nlm.nih.gov/pubmed/34630532
http://dx.doi.org/10.3389/fgene.2021.741323

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